Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001218360 | SCV001390240 | uncertain significance | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 528 of the MSH3 protein (p.Leu528Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 947308). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002402655 | SCV002705949 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.L528V variant (also known as c.1582C>G), located in coding exon 11 of the MSH3 gene, results from a C to G substitution at nucleotide position 1582. The leucine at codon 528 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005040032 | SCV005666185 | uncertain significance | Endometrial carcinoma; Familial adenomatous polyposis 4 | 2024-02-26 | criteria provided, single submitter | clinical testing |